S58T (p.Ser58Thr) variant of RAI1 (Retinoic acid-induced protein 1)
S58T (p.Ser58Thr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S58T (p.Ser58Thr) variant details
- p.Ser58Thr
- rs1488017236
- ClinGen CA398544908
- ClinVar RCV003210369
- ClinVar RCV003720799
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)